Movement disorders in mitochondrial disease

LYRM7mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance

(2016) Cristina Dallabona et al.   BRAIN

Exome sequencing coupled with mRNA analysis identifies NDUFAF6 as a Leigh gene

(2016) Laura Bianciardi et al.   MOLECULAR GENETICS AND METABOLISM

Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease

(2016) Mika H. Martikainen et al.   JAMA Neurology

Leigh syndrome: One disorder, more than 75 monogenic causes

(2015) Nicole J. Lake et al.   ANNALS OF NEUROLOGY

Pure Progressive Ataxia and Palatal Tremor (PAPT) Associated with a New Polymerase Gamma (POLG) Mutation

(2015) Nicolas Nicastro et al.   CEREBELLUM

Novel, Compound Heterozygous, Single-Nucleotide Variants inMARS2Associated with Developmental Delay, Poor Growth, and Sensorineural Hearing Loss

(2015) Bryn D. Webb et al.   HUMAN MUTATION

ECHS1 Mutations Cause Combined Respiratory Chain Deficiency Resulting in Leigh Syndrome

(2015) Chika Sakai et al.   HUMAN MUTATION

Myoclonus in mitochondrial disorders

(2014) Michelangelo Mancuso et al.   MOVEMENT DISORDERS

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

(2014) Mikko Muona et al.   NATURE GENETICS

A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy

(2014) K. Hallmann et al.   NEUROLOGY

Novel polymerase gamma (POLG1) gene mutation in the linker domain associated with parkinsonism

(2013) Rachel Dolhun et al.   BMC Neurology

Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5

(2013) Peter R. Baker et al.   BRAIN

MTO1 Mutations are Associated with Hypertrophic Cardiomyopathy and Lactic Acidosis and Cause Respiratory Chain Deficiency in Humans and Yeast

(2013) Enrico Baruffini et al.   HUMAN MUTATION

Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 (FAM36A) mutation

(2013) Sarah Doss et al.   JOURNAL OF NEUROLOGY

A guide to diagnosis and treatment of Leigh syndrome

(2013) F. Baertling et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening

(2013) Tobias B. Haack et al.   MOLECULAR GENETICS AND METABOLISM

Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling

(2013) Clare V Logan et al.   NATURE GENETICS

Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression

(2013) Cyril Mignot et al.   Orphanet Journal of Rare Diseases

EMRE Is an Essential Component of the Mitochondrial Calcium Uniporter Complex

(2013) Y. Sancak et al.   SCIENCE

Mutations of the Mitochondrial-tRNA Modifier MTO1 Cause Hypertrophic Cardiomyopathy and Lactic Acidosis

(2012) Daniele Ghezzi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Rapid disease progression in adult-onset mitochondrial membrane protein-associated neurodegeneration

(2012) O Dogu et al.   CLINICAL GENETICS

Mitochondrial diseases and epilepsy

(2012) Laurence A. Bindoff et al.   EPILEPSIA

Classical MERRF phenotype associated with mitochondrial tRNALeu (m.3243A>G) mutation

(2012) Florian Brackmann et al.   EUROPEAN JOURNAL OF PEDIATRICS

A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia

(2012) Radek Szklarczyk et al.   HUMAN MOLECULAR GENETICS

C19orf12 mutations in neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis

(2012) M. Deschauer et al.   JOURNAL OF NEUROLOGY

The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome

(2012) Ainhi D. Ha et al.   MOVEMENT DISORDERS

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness

(2012) Saskia B Wortmann et al.   NATURE GENETICS

A case of Leber hereditary optic neuropathy plus dystonia caused by G14459A mitochondrial mutation

(2012) Enrico Saracchi et al.   NEUROLOGICAL SCIENCES

Absence of an Orphan Mitochondrial Protein, C19orf12, Causes a Distinct Clinical Subtype of Neurodegeneration with Brain Iron Accumulation

(2011) Monika B. Hartig et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exome sequencing of a pedigree with tourette syndrome or chronic tic disorder

(2011) Senthil K. Sundaram et al.   ANNALS OF NEUROLOGY

HSD10 disease: clinical consequences of mutations in the HSD17B10 gene

(2011) Johannes Zschocke   JOURNAL OF INHERITED METABOLIC DISEASE

Parkinson's syndrome and Parkinson's disease in mitochondrial disorders

(2011) Josef Finsterer   MOVEMENT DISORDERS

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

(2011) Hossein Najmabadi et al.   NATURE

Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies

(2011) Daniele Ghezzi et al.   NATURE GENETICS

RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions

(2011) C. Fratter et al.   NEUROLOGY

A Novel Mutation in the HSD17B10 Gene of a 10-Year-Old Boy with Refractory Epilepsy, Choreoathetosis and Learning Disability

(2011) Laurie H. Seaver et al.   PLoS One

Ophthalmoplegia-plus, a real nosological entity

(2010) L. A. K. Bastiaensen et al.   ACTA NEUROLOGICA SCANDINAVICA

Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias

(2010) Claudia Cagnoli et al.   HUMAN MUTATION

A neurological perspective on mitochondrial disease

(2010) Robert McFarland et al.   LANCET NEUROLOGY

The clinical diagnosis of POLG disease and other mitochondrial DNA depletion disorders

(2010) Bruce H. Cohen et al.   METHODS

Definition and classification of hyperkinetic movements in childhood

(2010) Terence D. Sanger et al.   MOVEMENT DISORDERS

Polymerase Gamma 1 Mutations

(2010) Margherita Milone et al.   NEUROLOGIST

Mutations in SACS cause atypical and late-onset forms of ARSACS

(2010) J. Baets et al.   NEUROLOGY

A Nonsense Mutation in COQ9 Causes Autosomal-Recessive Neonatal-Onset Primary Coenzyme Q10 Deficiency: A Potentially Treatable Form of Mitochondrial Disease

(2009) Andrew J. Duncan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A New Mitochondrial Transfer RNAPro Gene Mutation Associated With Myoclonic Epilepsy With Ragged-Red Fibers and Other Neurological Features

(2009) Emma L. Blakely et al.   ARCHIVES OF NEUROLOGY

Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children

(2009) J D Stewart et al.   JOURNAL OF MEDICAL GENETICS

Progressive myoclonic epilepsy as an adult-onset manifestation of Leigh syndrome due to m.14487T>C

(2009) B Dermaut et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Mitochondrial ND3 as the novel causative gene for Leber hereditary optic neuropathy and dystonia

(2009) Kang Wang et al.   NEUROGENETICS

AGC1 Deficiency Associated with Global Cerebral Hypomyelination

(2009) Rolf Wibom et al.   NEW ENGLAND JOURNAL OF MEDICINE

ADCK3, an Ancestral Kinase, Is Mutated in a Form of Recessive Ataxia Associated with Coenzyme Q10 Deficiency

(2008) Clotilde Lagier-Tourenne et al.   AMERICAN JOURNAL OF HUMAN GENETICS

CABC1 Gene Mutations Cause Ubiquinone Deficiency with Cerebellar Ataxia and Seizures

(2008) Julie Mollet et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A clinical, genetic, and biochemical characterization ofSPG7mutations in a large cohort of patients with hereditary spastic paraplegia

(2008) Alessia Arnoldi et al.   HUMAN MUTATION

Palatal tremor and facial dyskinesia in a patient withPOLG1mutation

(2008) Krisztina K. Johansen et al.   MOVEMENT DISORDERS

Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes

(2008) F. Brugman et al.   NEUROLOGY

Rare mtDNA variants in Leber hereditary optic neuropathy families with recurrence of myoclonus

(2008) C. L. Morgia et al.   NEUROLOGY